CRYBA4 - crystallin beta A4 Gene

Also Known as CYRBA4; CTRCT23; MCOPCT4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1413

About CRYBA4

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,590,220-26,630,669 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues, 14 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with Other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

CRYBA4 Products (1)

mRNA Protein Name
NM_001886.3 NP_001877.1 beta-crystallin A4

CRYBA4 Protein Structure

Crystall

Crystall: Beta/Gamma crystallin (13 - 96)

Crystall

Crystall: Beta/Gamma crystallin (107 - 194)

  • 0
  • 100
  • 196 a.a.
Protein Preferred Names Protein Names

beta-crystallin A4

  • beta crystallin A4 chain transcript PS

CRYBA4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CRYBA4 P53673 GLI1 Homo sapiens P08151 25910212
Intra
CRYBA4 P53673 GLI1 Homo sapiens P08151 25910212
Intra
CRYBA4 P53673 GLI1 Homo sapiens P08151 25910212
Intra
CRYBA4 P53673 EFEMP1 Homo sapiens Q12805 25910212
Intra
CRYBA4 P53673 EFEMP1 Homo sapiens Q12805 25910212
Intra
CRYBA4 P53673 EFEMP1 Homo sapiens Q12805 25910212
Intra
CRYBA4 P53673 STX11 Homo sapiens O75558 25910212
Intra
CRYBA4 P53673 STX11 Homo sapiens O75558 25910212
Intra
CRYBA4 P53673 STX11 Homo sapiens O75558 25910212
Intra
CRYBA4 P53673 CCDC33 Homo sapiens Q8N5R6 25910212
Intra
CRYBA4 P53673 CCDC33 Homo sapiens Q8N5R6 25910212
Intra
CRYBA4 P53673 CCDC33 Homo sapiens Q8N5R6 25910212
Intra
CRYBA4 P53673 TRIP6 Homo sapiens Q15654 25910212
Intra
CRYBA4 P53673 TRIP6 Homo sapiens Q15654 25910212
Intra
CRYBA4 P53673 TRIP6 Homo sapiens Q15654 25910212
Intra
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6 25910212
Intra
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6 25910212
Intra
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6 25416956
Intra
CRYBA4 P53673 CEP76 Homo sapiens Q8TAP6 25910212
Intra
CRYBA4 P53673 IKZF3 Homo sapiens Q9UKT9 25910212
Intra
CRYBA4 P53673 IKZF3 Homo sapiens Q9UKT9 25910212
Intra
CRYBA4 P53673 IKZF3 Homo sapiens Q9UKT9 25910212
Intra
CRYBA4 P53673 FHL5 Homo sapiens Q5TD97 25910212
Intra
CRYBA4 P53673 FHL5 Homo sapiens Q5TD97 25910212
Intra
CRYBA4 P53673 FHL5 Homo sapiens Q5TD97 25910212
Intra
CRYBA4 P53673 CRYBB1 Homo sapiens P53674 31254514
Intra
CRYBA4 P53673 CRYBB1 Homo sapiens P53674
Y2H
31254514
Intra
CRYBA4 P53673 C1orf94 Homo sapiens Q6P1W5 25910212
Intra
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
Y2H
31254514
Intra
CRYBA4 P53673 C1orf94 Homo sapiens Q6P1W5 25910212
Intra
CRYBA4 P53673 C1orf94 Homo sapiens Q6P1W5 25910212
Intra
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
FCS
31254514
Intra
CRYBA4 P53673 CRYBA4 Homo sapiens P53673 31254514
Intra
CRYBA4 P53673 CRYBA4 Homo sapiens P53673
GMS
31254514
Intra
CRYBA4 P53673 MIF4GD Homo sapiens A9UHW6-2 25910212
Intra
CRYBA4 P53673 MIF4GD Homo sapiens A9UHW6-2 25910212
Intra
CRYBA4 P53673 MIF4GD Homo sapiens A9UHW6-2 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cataract 23, Multiple Types
  • Cataract 23

  • CTRCT23

  • Lamellar Cataract 23

  • Cataract 23, Multiple Types, With Or Without Microcornea

  • Isolated Microphthalmia With Cataract 4

  • Mcopct4

  • Cataract, Type 23

  • Microphthalmia, Isolated, With Cataract 4

Cataract 17, Multiple Types
  • CTRCT17

  • Cataract, Congenital Nuclear, Autosomal Recessive 3

  • Catcn3

  • Cataract 17 Multiple Types

  • Cataract 17, Multiple Types, With Or Without Microcornea

  • Autosomal Recessive Congenital Nuclear Cataract 3

Cataract Microcornea Syndrome
  • Microcornea Cataract Syndrome

  • Cataract-Microcornea Syndrome

Early-Onset Lamellar Cataract
Colobomatous Microphthalmia
  • Anophthalmia-Microphthalmia Syndrome

  • Mac

  • Microphthalmia With Colobomatous Cyst

  • Microphthalmia-Anophthalmia-Coloboma Syndrome

  • Microphthalmia-Anophthalmia-Coloboma

  • Microphthalmia And Mental Deficiency

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Trichothiodystrophy 6, Nonphotosensitive
  • TTD6

  • Nonphotosensitive Trichothiodystrophy 6

  • Trichothiodystrophy 6, Non-Photosensitive

Nonphotosensitive Trichothiodystrophy
  • Trichothiodystrophy Nonphotosensitive

  • Amish Brittle Hair Brain Syndrome

Abruzzo-Erickson Syndrome
  • Abruzzo Erickson Syndrome

  • ABERS

  • Charge-Like Syndrome, X-Linked

  • Cleft Palate-Coloboma-Deafness Syndrome

  • Charge Like Syndrome X-Linked

  • Charge-Like Syndrome

  • Cleft Palate-Coloboma-Hearing Loss Syndrome

  • X-Linked Charge-Like Syndrome

Nance-Horan Syndrome
  • NHS

  • Cataract-Dental Syndrome

  • Cataract, X-Linked, With Hutchinsonian Teeth

  • Mesiodens-Cataract Syndrome

  • Cataract X-Linked With Hutchinsonian Teeth

  • Cataract Dental Syndrome

  • Mesiodens Cataract Syndrome

Posterior Polar Cataract
  • Cataract, Posterior Polar

Retinitis Pigmentosa 29
  • RP29

Isolated Microphthalmia
Galactosemia Ii
  • Galactokinase Deficiency

  • Galk Deficiency

  • Galactokinase Deficiency With Cataracts

  • Deficiency Of Galactokinase

  • GALAC2

  • Galk-D

  • Galactokinase Deficiency Galactosemia

  • Galactosemia 2

  • Galactosemia Type 2

  • Hereditary Galactokinase Deficiency

  • Galactokinase Deficiency, Cataract

  • Galactosemias

  • Galk - [Galactokinase Deficiency]

Syndromic Microphthalmia
  • Microphthalmia, Syndromic

Microphthalmia, Syndromic 2
  • Oculofaciocardiodental Syndrome

  • Ofcd Syndrome

  • MCOPS2

  • Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects

  • Syndromic Microphthalmia 2

  • Anop2

  • Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome

  • Maa2

  • Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects

  • Syndromic Microphthalmia Type 2

  • Oculo-Facio-Cardio-Dental Syndrome

  • Anop2, Formerly

  • Maa2, Formerly

  • Microphthalmia Syndromic 2

  • Oculo Facio Cardio Dental Syndrome

  • Microphthalmia, Syndromic, 2

  • Marashi-Gorlin Syndrome

  • Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects

  • Microphthalmia, Syndromic, Type 2

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Porencephaly
Aniridia 1
  • Aniridia

  • Congenital Aniridia

  • AN1

  • An

  • Cataract With Late-Onset Corneal Dystrophy

  • Aplasia Of Iris

  • Absent Iris

  • Irideremia

  • Aniridia Ii, Formerly

  • An2, Formerly

  • An2

  • Aniridia Type Ii

  • Aniridia, Type 1

  • An-1

  • Absence Of Iris

  • Agenesis Of Iris

  • Congenital Absence Of Iris

  • Hereditary Aniridia

  • Sporadic Aniridia

Lens Disease
  • Lens Diseases

Lens Subluxation
  • Subluxation Of Lens

Anterior Segment Dysgenesis
  • Anterior Segment Developmental Anomaly

  • Anterior Segment Mesenchymal Dysgenesis

  • Corneal Opacification And Other Ocular Anomalies

  • Sclerocornea With Other Ocular Anomalies

  • Asmd

  • Asod

  • Anterior Segment Ocular Dysgenesis

  • Foxe3-Related Ocular Disorder

  • Familial Ocular Anterior Segment Mesenchymal Dysgenesis

  • Dysgenesis, Anterior Segment

  • Irido-Corneal Dysgenesis

  • Axenfeld-Rieger Syndrome, Type 3

Iris Disease
  • Iris Diseases

Amblyopia
  • Lazy Eye

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CRYBA4 MGD MGI:102716
Felis catus CRYBA4 VGNC VGNC:61200
Bos taurus CRYBA4 VGNC VGNC:27735
Macaca mulatta CRYBA4 VGNC VGNC:71503
Rattus norvegicus CRYBA4 RGD RGD:61962
Canis familiaris CRYBA4 VGNC VGNC:39638
Others CRYBA4 NCBI